A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene.
10.3345/kjp.2010.53.12.1018
- Author:
Won Ik CHOI
1
;
Ji Hye KIM
;
Han Wook YOO
;
Sung Hee OH
Author Information
1. Department of Pediatrics, Hanyang University School of Medicine, Seoul, Korea. sungheeo@hanyang.ac.kr
- Publication Type:Case Report
- Keywords:
Townes-Brocks syndrome;
SALL1;
Congenital hypothyroidism
- MeSH:
Abnormalities, Multiple;
Anal Canal;
Aneuploidy;
Animals;
Anus, Imperforate;
Cats;
Chromosome Disorders;
Chromosomes, Human, Pair 22;
Congenital Hypothyroidism;
Congenital, Hereditary, and Neonatal Diseases and Abnormalities;
Craniosynostoses;
Diagnosis, Differential;
Esophagus;
Eye;
Goiter, Nodular;
Hearing Loss, Sensorineural;
Heart Defects, Congenital;
Humans;
Kidney;
Limb Deformities, Congenital;
Radius;
Spine;
Thumb;
Trachea
- From:Korean Journal of Pediatrics
2010;53(12):1018-1021
- CountryRepublic of Korea
- Language:English
-
Abstract:
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation.
